Andrea Anderson

Researchers increased the diagnostic rate for critically ill newborns by using simple, broad exclusion criteria rather than complicated guidelines for selecting infants to be sequenced.

Using claims data, researchers saw an uptick in urinary tract infections diagnosed with pricey molecular panels, notwithstanding their limited clinical evidence.

In an indirect comparison study by researchers in Germany, a fecal immunochemical test showed similar sensitivity and specificity as Exact Sciences' Cologuard Plus test.

Investigators found that they could increase CNS infection diagnoses by using metagenomic next-generation sequencing to test cerebrospinal fluid samples.

Research teams explored the performance of circulating cell-free DNA and stool DNA testing to find colorectal cancer in average-risk individuals.

Researchers developed an early ovarian cancer test based on DNA from Pap smears from women who went on to develop high-grade serous ovarian cancer.

The Children's Mercy Research Institute is using exome sequencing, genome sequencing, and other methods to diagnose and study rare pediatric conditions in underserved patients.

Test Summary

Nearly 3,500 patients were referred to the Roberts Individualized Medical Genetics Center for exome sequencing or other testing during the clinical program's first four years.

The team analyzed multigene panel test data from Ambry Genetics for 165,000 individuals, focusing on hereditary cancer risk related to 32 genes in six cancer types.